Frontiers in pediatrics

BackgroundSteroidogenic factor 1 (SF-1), encoded by the NR5A1 gene, is a critical transcriptional regulator of adrenal and gonadal development. Pathogenic NR5A1 variants lead to a broad phenotypic spectrum characterized by insufficient viri…

This case series explores the diagnostic overlap between OHVIRA syndrome (obstructed hemivagina and ipsilateral renal anomaly) and Gartner duct cyst (GDC) with ipsilateral renal dysplasia in two prepubertal girls. Both cases exhibited simil…

Splenectomy is a well-established therapeutic approach for pediatric hematologic disorders, especially in the case of hereditary spherocytosis (HS). In addition to the commonly acknowledged short- and long-term infectious and thrombotic com…

INTRODUCTION: Menstrual irregularities are common in adolescents, often linked to anovulatory cycles. This study aims to establish diagnostic cut-off values for Polycystic Ovary Syndrome (PCOS) and differentiate it from anovulatory dysfunct…

The article reports a case of fetal imperforate hymen diagnosed by prenatal MRI and confirmed by postnatal surgery. The pregnant woman underwent routine 37-week ultrasound examination, which revealed an enlarged fetal bladder and an abdomin…

BACKGROUND: Currently, tics and Tourette's disorder are burdensome neurological disorders that manifest in vocal and motor tics with onset during childhood. Previous studies have demonstrated that maternal autoimmune diseases may cause seve…

OBJECTIVE: This study aims to analyze and summarize the clinical characteristics of small intestinal adenomyosis. METHODS: A retrospective study was conducted on children with small intestinal adenomyosis at our center from 2014 to 2024. T…

BACKGROUND: Previous research has demonstrated that exposure to individual heavy metals elevates the incidence rate of congenital heart defects (CHDs). However, there is a paucity of data concerning the relationship between combined exposur…

IntroductionThe onset of the COVID-19 pandemic saw a global surge in functional tic-like behaviors (FTLBs). FTLBs are unique from primary tic disorders. They are thought to manifest through a complex interplay between environmental and pers…

INTRODUCTION: Central precocious puberty (CPP) results from premature activation of hypothalamic-pituitary-gonadal axis, with the consequent increase of gonadotropin-releasing hormone (GnRH); GnRH agonists (GnRHa) represent the gold-standar…

INTRODUCTION: Hereditary angioedema due to C1-inhibitor deficiency is influenced by hormonal factors, with a more severe course of disease in women. Our study aims to deepen the impact of puberty on onset, frequency, location and severity o…

Burkitt's lymphoma (BL) is defined as a highly invasive B-cell lymphoma, usually characterized by an excellent prognosis, more than 90% of children and adolescents being cured with highly dose-intensive multiagent chemotherapy. Primary ovar…

INTRODUCTION: Patients with pulmonary sequestration (PS), a rare congenital lung malformation, are mostly asymptomatic. Recurrent localized infection is a major complication, while sudden hemothorax is extremely rare. We present a case of i…

BACKGROUND: Anogenital distance (AGD) is a biomarker used for the evaluation of fetal androgen action. The disruption of fetal androgen action can affect the development of the reproductive system and adversely affect future reproductive fu…

BackgroundThyroid gland malignancies are rare in pediatric patients (0.7% of tumors); only 1.8% are observed in patients aged <20 years, with a higher prevalence recorded in women and adolescents. Risk factors include genetic syndromes, MEN…

Ovarian masses are not easily differentiated on transabdominal ultrasound in children. A useful supplement in various pediatric applications is dynamic contrast-enhanced ultrasound (dynCEUS). It can be performed quickly and easily. However,…

Unilateral renal agenesis and multicystic dysplastic kidney, resulting in a contralateral solitary functioning kidney (SFK), are part of the broad spectrum of congenital anomalies of the kidney and urinary tract (CAKUT). In girls with SFK, …

Introduction: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare metabolic disease caused by biallelic variants in ACSF3 gene. The clinical phenotype is highly heterogeneous in this disorder, ranging from asymptomatic to severe …

Background: Laparoscopic cholecystectomy (LC) is the standard of care for gallbladder (GB) pathologies. We evaluated clinical, ultrasonographic (US) data as well as histopathological findings in children affected with symptomatic cholecysti…

Background: Endometriosis (EM) is a recognized co-morbid condition in women with chronic fatigue syndrome (CFS). This analysis evaluates the impact of EM on the health of women with CFS by comparing selected health characteristics and labor…

Monogenic or Mendelian forms of hypertension are described as a group of conditions characterized by insults to the normal regulation of blood pressure by the kidney and adrenal gland. These alterations stem from single mutations that lead …

This paper introduces the primary care physician to the unique and challenging aspects of initially diagnosing and managing a complex condition for which there are a plethora of symptoms, few physical findings, no known cause, and no specif…

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex disease that affects children and adolescents as well as adults. The etiology has not been established. While many pediatricians and other health-care providers are aw…